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Items: 20

1.

Multiple exostoses

Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage. [from HPO]

MedGen UID:
505349
Concept ID:
CN002506
Finding
2.

Exostoses

An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage. [from HPO]

MedGen UID:
452009
Concept ID:
CN117667
Finding
3.

Hereditary multiple osteochondromas

The disorder hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas (benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones). Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%). [from GeneReviews]

MedGen UID:
449089
Concept ID:
CN072831
Disease or Syndrome
4.

Multiple congenital exostosis

The disorder hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas (benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones). Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%). [from GeneReviews]

MedGen UID:
4612
Concept ID:
C0015306
Congenital Abnormality; Disease or Syndrome
5.

Sarcoma

Your soft tissues connect, support, or surround other tissues. Examples include your muscles, tendons, fat, and blood vessels. Soft tissue sarcoma is a cancer of these soft tissues. There are many kinds, based on the type of tissue they started in. They may cause a lump or swelling in the soft tissue. Sometimes they spread and can press on nerves and organs, causing problems such as pain or trouble breathing. No one knows exactly what causes these cancers. They are not common, but you have a higher risk if you have been exposed to certain chemicals, have had radiation therapy, or have certain genetic diseases. Doctors diagnose soft tissue sarcomas with a biopsy. Treatments include surgery to remove the tumor, radiation therapy, chemotherapy, or a combination. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
224714
Concept ID:
C1261473
Neoplastic Process
6.

breast cancer

MedGen UID:
880206
Concept ID:
CN235590
Finding
7.

Breast cancer

MedGen UID:
808165
Concept ID:
CN221572
Disease or Syndrome
8.

Sarcoma

A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. [from HPO]

MedGen UID:
506452
Concept ID:
CN117138
Finding
9.

Neoplasm of the breast

A tumor (abnormal growth of tissue) of the breast. [from HPO]

MedGen UID:
506444
Concept ID:
CN116912
Finding
10.

Breast carcinoma

The presence of a carcinoma of the breast. [from HPO]

MedGen UID:
428324
Concept ID:
CN002714
Finding
11.

Multiple exostoses type 2

The disorder hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas (benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones). Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%). [from GeneReviews]

MedGen UID:
377018
Concept ID:
C1851413
Disease or Syndrome
12.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
13.

Neoplasm of breast

Tumors or cancer of the human BREAST. [from MeSH]

MedGen UID:
264172
Concept ID:
C1458155
Neoplastic Process
14.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
15.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
16.

Hereditary cancer-predisposing syndrome

The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance. [from MeSH]

MedGen UID:
14326
Concept ID:
C0027672
Neoplastic Process
17.

Osteochondrodysplasia

A general term describing features characterized by abnormal development of bones and connective tissues. [from HPO]

MedGen UID:
10495
Concept ID:
C0029422
Congenital Abnormality
18.

Hyperostosis

Increase in the mass of bone per unit volume. [from MeSH]

MedGen UID:
9366
Concept ID:
C0020492
Disease or Syndrome
19.

Chondrosarcoma

A slowly growing malignant neoplasm derived from cartilage cells. [from HPO]

MedGen UID:
3054
Concept ID:
C0008479
Neoplastic Process
20.

Malignant neoplasm of other specified sites of female breast

MedGen UID:
775803
Concept ID:
C0153555
Neoplastic Process
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